Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Mekel-Bobrov, Nitzan; Gilbert, Sandra L; Evans, Patrick D; Vallender, Eric J; Anderson, Jeffrey R; Hudson, Richard R; Tishkoff, Sarah A; Lahn, Bruce T
Year of Publication: 2005
Journal: Science
Volume: 309
Issue: 5741
Pagination: 1720-2
Date Published: 2005 Sep 9
Publication Language: eng
ISSN: 1095-9203
Keywords: Adaptation, Biological, African Continental Ancestry Group, Animals, Asian Continental Ancestry Group, Biological Evolution, Brain, European Continental Ancestry Group, Gene Conversion, Gene Frequency, Genotype, Haplotypes, Humans, Linkage Disequilibrium, Models, Genetic, Nerve Tissue Proteins, Organ Size, Pan troglodytes, Phylogeny, Polymorphism, Genetic, Recombination, Genetic, Selection, Genetic, Sequence Analysis, DNA, Time

The gene ASPM (abnormal spindle-like microcephaly associated) is a specific regulator of brain size, and its evolution in the lineage leading to Homo sapiens was driven by strong positive selection. Here, we show that one genetic variant of ASPM in humans arose merely about 5800 years ago and has since swept to high frequency under strong positive selection. These findings, especially the remarkably young age of the positively selected variant, suggest that the human brain is still undergoing rapid adaptive evolution.

DOI: 10.1126/science.1116815
Alternate Journal: Science